{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126221",
  "communityStandardTitle": [
    "NM_000176.3(NR3C1):c.2259A>T (p.Leu753Phe)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1672002",
        "active": true,
        "id": "COSM1672002"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31188[alleleid]",
        "alleleId": 31188,
        "preferredName": "NM_000176.3(NR3C1):c.2259A>T (p.Leu753Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16149",
        "RCV": [
          "RCV000017531"
        ],
        "variationId": 16149
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.142661529T>A?assembly=hg19",
        "id": "chr5:g.142661529T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.143281964T>A?assembly=hg38",
        "id": "chr5:g.143281964T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909726",
        "rs": 121909726
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 143281964,
          "referenceAllele": "T",
          "start": 143281963
        }
      ],
      "hgvs": [
        "NC_000005.10:g.143281964T>A",
        "CM000667.2:g.143281964T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 142661529,
          "referenceAllele": "T",
          "start": 142661528
        }
      ],
      "hgvs": [
        "NC_000005.9:g.142661529T>A",
        "CM000667.1:g.142661529T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 142641722,
          "referenceAllele": "T",
          "start": 142641721
        }
      ],
      "hgvs": [
        "NC_000005.8:g.142641722T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158549,
          "referenceAllele": "A",
          "start": 158548
        }
      ],
      "hgvs": [
        "NG_009062.1:g.158549A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001404"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2748,
          "referenceAllele": "A",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "ENST00000394464.7:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377977.2:p.Leu753Phe",
        "hgvsWellDefined": "ENSP00000377977.2:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753263",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394464.7:c.2259A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000176.3:c.2259A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377977.2:p.Leu753Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000167.1:p.Leu753Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2179,
          "referenceAllele": "A",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "ENST00000652686.1:c.2166A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498663.1:p.Leu722Phe",
        "hgvsWellDefined": "ENSP00000498663.1:p.Leu722Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2754,
          "referenceAllele": "A",
          "start": 2753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "ENST00000231509.7:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231509.3:p.Leu754Phe",
        "hgvsWellDefined": "ENSP00000231509.3:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3253,
          "referenceAllele": "A",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "ENST00000343796.6:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343205.2:p.Leu753Phe",
        "hgvsWellDefined": "ENSP00000343205.2:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2762,
          "referenceAllele": "A",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "ENST00000394464.6:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377977.2:p.Leu753Phe",
        "hgvsWellDefined": "ENSP00000377977.2:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2419,
          "referenceAllele": "A",
          "start": 2418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "ENST00000394466.6:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377979.2:p.Leu754Phe",
        "hgvsWellDefined": "ENSP00000377979.2:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "endIntronDirection": "+",
          "endIntronOffset": 604,
          "referenceAllele": "A",
          "start": 2313,
          "startIntronDirection": "+",
          "startIntronOffset": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "ENST00000415690.6:c.2181+604A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387672.2:n.2181+604A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2194,
          "referenceAllele": "A",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "ENST00000424646.6:c.2181A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405282.2:p.Leu727Phe",
        "hgvsWellDefined": "ENSP00000405282.2:p.Leu727Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2441,
          "referenceAllele": "A",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "ENST00000503201.1:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427672.1:p.Leu753Phe",
        "hgvsWellDefined": "ENSP00000427672.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2545,
          "referenceAllele": "A",
          "start": 2544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "ENST00000504572.5:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422518.1:p.Leu754Phe",
        "hgvsWellDefined": "ENSP00000422518.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825083996",
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "A",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_000176.2:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000167.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_000167.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006238"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825327621",
      "coordinates": [
        {
          "allele": "T",
          "end": 2581,
          "referenceAllele": "A",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001018074.1:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018084.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_001018084.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825327715",
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "A",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001018075.1:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018085.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_001018085.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825327809",
      "coordinates": [
        {
          "allele": "T",
          "end": 2377,
          "referenceAllele": "A",
          "start": 2376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001018076.1:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018086.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_001018086.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126222",
      "coordinates": [
        {
          "allele": "T",
          "end": 3253,
          "referenceAllele": "A",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001018077.1:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018087.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_001018087.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2673,
          "endIntronDirection": "+",
          "endIntronOffset": 604,
          "referenceAllele": "A",
          "start": 2673,
          "startIntronDirection": "+",
          "startIntronOffset": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001020825.1:c.2181+604A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018661.1:n.2181+604A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825332448",
      "coordinates": [
        {
          "allele": "T",
          "end": 2754,
          "referenceAllele": "A",
          "start": 2753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001024094.1:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019265.1:p.Leu754Phe",
        "hgvsWellDefined": "NP_001019265.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826268940",
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "A",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204258.1:c.2181A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191187.1:p.Leu727Phe",
        "hgvsWellDefined": "NP_001191187.1:p.Leu727Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269024",
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "A",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204259.1:c.2004A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191188.1:p.Leu668Phe",
        "hgvsWellDefined": "NP_001191188.1:p.Leu668Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269107",
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "A",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204260.1:c.1992A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191189.1:p.Leu664Phe",
        "hgvsWellDefined": "NP_001191189.1:p.Leu664Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269189",
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "A",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204261.1:c.1968A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191190.1:p.Leu656Phe",
        "hgvsWellDefined": "NP_001191190.1:p.Leu656Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269236",
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "A",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204262.1:c.1314A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191191.1:p.Leu438Phe",
        "hgvsWellDefined": "NP_001191191.1:p.Leu438Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269284",
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "A",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204263.1:c.1269A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191192.1:p.Leu423Phe",
        "hgvsWellDefined": "NP_001191192.1:p.Leu423Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269331",
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "A",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204264.1:c.1254A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191193.1:p.Leu418Phe",
        "hgvsWellDefined": "NP_001191193.1:p.Leu418Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "A",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_005268419.2:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268476.1:p.Leu754Phe",
        "hgvsWellDefined": "XP_005268476.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2480,
          "referenceAllele": "A",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_005268420.3:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268477.1:p.Leu754Phe",
        "hgvsWellDefined": "XP_005268477.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2546,
          "referenceAllele": "A",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_005268422.2:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268479.1:p.Leu754Phe",
        "hgvsWellDefined": "XP_005268479.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2535,
          "referenceAllele": "A",
          "start": 2534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_005268423.2:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268480.1:p.Leu754Phe",
        "hgvsWellDefined": "XP_005268480.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "A",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_011537637.1:c.1068A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535939.1:p.Leu356Phe",
        "hgvsWellDefined": "XP_011535939.1:p.Leu356Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "endIntronDirection": "-",
          "endIntronOffset": 2734,
          "referenceAllele": "T",
          "start": 655,
          "startIntronDirection": "-",
          "startIntronOffset": 2735
        }
      ],
      "hgvs": [
        "XR_944371.1:n.656-2735T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "A",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NR_157096.1:n.1182A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2384,
          "referenceAllele": "A",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_005268419.4:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268476.1:p.Leu754Phe",
        "hgvsWellDefined": "XP_005268476.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2665,
          "referenceAllele": "A",
          "start": 2664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_005268420.4:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268477.1:p.Leu754Phe",
        "hgvsWellDefined": "XP_005268477.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2546,
          "referenceAllele": "A",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_005268422.3:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268479.1:p.Leu754Phe",
        "hgvsWellDefined": "XP_005268479.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2535,
          "referenceAllele": "A",
          "start": 2534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_005268423.3:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268480.1:p.Leu754Phe",
        "hgvsWellDefined": "XP_005268480.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10836,
          "referenceAllele": "A",
          "start": 10835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_011537637.3:c.1068A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535939.1:p.Leu356Phe",
        "hgvsWellDefined": "XP_011535939.1:p.Leu356Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2377,
          "referenceAllele": "A",
          "start": 2376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_017009397.1:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864886.1:p.Leu753Phe",
        "hgvsWellDefined": "XP_016864886.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2676,
          "referenceAllele": "A",
          "start": 2675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "XM_017009398.1:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864887.1:p.Leu753Phe",
        "hgvsWellDefined": "XP_016864887.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825083996",
      "coordinates": [
        {
          "allele": "T",
          "end": 2748,
          "referenceAllele": "A",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_000176.3:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000167.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_000167.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662340",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394464.7:c.2259A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000176.3:c.2259A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377977.2:p.Leu753Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000167.1:p.Leu753Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828131967",
      "coordinates": [
        {
          "allele": "T",
          "end": 2478,
          "referenceAllele": "A",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001364180.1:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351109.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_001351109.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828132061",
      "coordinates": [
        {
          "allele": "T",
          "end": 2523,
          "referenceAllele": "A",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001364181.1:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351110.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_001351110.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828132155",
      "coordinates": [
        {
          "allele": "T",
          "end": 2954,
          "referenceAllele": "A",
          "start": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001364182.1:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351111.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_001351111.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828132249",
      "coordinates": [
        {
          "allele": "T",
          "end": 2652,
          "referenceAllele": "A",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001364183.1:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351112.1:p.Leu754Phe",
        "hgvsWellDefined": "NP_001351112.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828132343",
      "coordinates": [
        {
          "allele": "T",
          "end": 2382,
          "referenceAllele": "A",
          "start": 2381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001364184.1:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351113.1:p.Leu754Phe",
        "hgvsWellDefined": "NP_001351113.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044698",
      "coordinates": [
        {
          "allele": "T",
          "end": 2957,
          "referenceAllele": "A",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001364185.1:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351114.1:p.Leu754Phe",
        "hgvsWellDefined": "NP_001351114.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825327809",
      "coordinates": [
        {
          "allele": "T",
          "end": 2379,
          "referenceAllele": "A",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001018076.2:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018086.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_001018086.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2670,
          "endIntronDirection": "+",
          "endIntronOffset": 604,
          "referenceAllele": "A",
          "start": 2670,
          "startIntronDirection": "+",
          "startIntronOffset": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001020825.2:c.2181+604A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018661.1:n.2181+604A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825332448",
      "coordinates": [
        {
          "allele": "T",
          "end": 2751,
          "referenceAllele": "A",
          "start": 2750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001024094.2:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019265.1:p.Leu754Phe",
        "hgvsWellDefined": "NP_001019265.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826268940",
      "coordinates": [
        {
          "allele": "T",
          "end": 2748,
          "referenceAllele": "A",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204258.2:c.2181A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191187.1:p.Leu727Phe",
        "hgvsWellDefined": "NP_001191187.1:p.Leu727Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269024",
      "coordinates": [
        {
          "allele": "T",
          "end": 2748,
          "referenceAllele": "A",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204259.2:c.2004A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191188.1:p.Leu668Phe",
        "hgvsWellDefined": "NP_001191188.1:p.Leu668Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269107",
      "coordinates": [
        {
          "allele": "T",
          "end": 2748,
          "referenceAllele": "A",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204260.2:c.1992A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191189.1:p.Leu664Phe",
        "hgvsWellDefined": "NP_001191189.1:p.Leu664Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679806"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269189",
      "coordinates": [
        {
          "allele": "T",
          "end": 2748,
          "referenceAllele": "A",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204261.2:c.1968A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191190.1:p.Leu656Phe",
        "hgvsWellDefined": "NP_001191190.1:p.Leu656Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269236",
      "coordinates": [
        {
          "allele": "T",
          "end": 2748,
          "referenceAllele": "A",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204262.2:c.1314A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191191.1:p.Leu438Phe",
        "hgvsWellDefined": "NP_001191191.1:p.Leu438Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679808"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269284",
      "coordinates": [
        {
          "allele": "T",
          "end": 2748,
          "referenceAllele": "A",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204263.2:c.1269A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191192.1:p.Leu423Phe",
        "hgvsWellDefined": "NP_001191192.1:p.Leu423Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826269331",
      "coordinates": [
        {
          "allele": "T",
          "end": 2748,
          "referenceAllele": "A",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001204264.2:c.1254A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191193.1:p.Leu418Phe",
        "hgvsWellDefined": "NP_001191193.1:p.Leu418Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828131967",
      "coordinates": [
        {
          "allele": "T",
          "end": 2478,
          "referenceAllele": "A",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001364180.2:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351109.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_001351109.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828132061",
      "coordinates": [
        {
          "allele": "T",
          "end": 2523,
          "referenceAllele": "A",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001364181.2:c.2259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351110.1:p.Leu753Phe",
        "hgvsWellDefined": "NP_001351110.1:p.Leu753Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690826"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828132249",
      "coordinates": [
        {
          "allele": "T",
          "end": 2652,
          "referenceAllele": "A",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001364183.2:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351112.1:p.Leu754Phe",
        "hgvsWellDefined": "NP_001351112.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690827"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828132343",
      "coordinates": [
        {
          "allele": "T",
          "end": 2382,
          "referenceAllele": "A",
          "start": 2381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NM_001364184.2:c.2262A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351113.1:p.Leu754Phe",
        "hgvsWellDefined": "NP_001351113.1:p.Leu754Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "A",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007978",
      "geneNCBI_id": 2908,
      "geneSymbol": "NR3C1",
      "hgvs": [
        "NR_157096.2:n.1182A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704990"
    }
  ],
  "type": "nucleotide"
}